Global Prevalence and Clinical Manifestations of Celiac Disease Among First-Degree Relatives: A Systematic Review and Meta-Analysis.

INTRODUCTION

First-degree relatives (FDRs) of patients with celiac disease (CeD) are at high risk for developing CeD. We conducted a systematic review and meta-analysis to estimate CeD prevalence and clinical manifestations by analyzing studies that used the anti-tissue transglutaminase antibody test for screening.

METHODS

In this systematic review with meta-analysis, studies published in PubMed, Web of Science, Embase, and Scopus were searched up to January 11, 2024, using keywords related to CeD and FDRs. Random-effects models were used, with heterogeneity assessed using the Cochran Q test and the I2 statistic performed in STATA 18.

RESULTS

Of 8,764 studies screened, 34 studies involving 10,016 FDRs of patients with CeD were included. The pooled estimates for seroprevalence and the biopsy-confirmed CeD prevalence in FDRs were 11% (95% CI: 9%-13%) and 7% (95% CI: 6%-9%), respectively. Daughters and sisters had the highest prevalence rates at 23% and 14%, compared with sons and brothers at 6% and 9%, respectively. Regional analysis revealed the highest seroprevalence estimates in Hungary (24%) and Cuba (19%), while the highest prevalence of biopsy-confirmed CeD was reported in Serbia (16%) and the United States (15%). Abdominal pain (42%), bloating (39%), and flatulence (38%) were the most common gastrointestinal symptoms, while 34% of FDRs with CeD were asymptomatic. In addition, pallor was the most frequent nongastrointestinal symptom (54%).

DISCUSSION: Approximately 1 in 14 FDRs of patients with CeD is estimated to have CeD, with 1 in 4 daughters, 1 in 7 sisters, 1 in 11 brothers, 1 in 16 sons, and 1 in 20 fathers and mothers could be affected. Routine screening for FDRs could support early detection and management of CeD.